Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50909972C>G , CM000676.2:g.50909972C>G | GRCh38 |
| NC_000014.8:g.51376690C>G , CM000676.1:g.51376690C>G | GRCh37 |
| NC_000014.7:g.50446440C>G | NCBI36 |
| NG_012796.1:g.39559G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2100G>C MANE Select | ENSP00000216392.7:p.Met700Ile | |
| ENST00000216392.7:c.2100G>C | ENSP00000216392.7:p.Met700Ile | |
| ENST00000532107.2:n.273G>C | ||
| ENST00000532462.5:c.2100G>C | ENSP00000431657.1:p.Met700Ile | |
| ENST00000544180.6:c.1998G>C | ENSP00000443787.1:p.Met666Ile | |
| NM_001163940.1:c.1998G>C | NP_001157412.1:p.Met666Ile | |
| NM_002863.4:c.2100G>C | NP_002854.3:p.Met700Ile | |
| NM_002863.5:c.2100G>C MANE Select | NP_002854.3:p.Met700Ile | |
| NM_001163940.2:c.1998G>C | NP_001157412.1:p.Met666Ile |